Aortic arch anomaly with peculiar facies and impaired intellectual development

Preferred Label : Aortic arch anomaly with peculiar facies and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Aortic arch anomaly with peculiar facies and mental retardation;

Inheritance : Autosomal dominant;

Prefixed ID : 107500;

Détails

Origin ID

107500;

UMLS CUI

C1862682;

Currated CISMeF NLP mapping
- Aortic arch anomaly with peculiar facies and mental retardation [MeSH concept]
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
- aortic arch anomaly with peculiar facies and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal dominant inheritance [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Right aortic arch with mirror image branching [HPO term]
ORDO concept(s)
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aortic arch anomaly with peculiar facies and mental retardation [MeSH concept]
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome [ORDO Disease]
- aortic arch anomaly with peculiar facies and mental retardation [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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